SCN5A c.-53+8001C>G

Variant ID: 3-38683021-G-C

NM_000335.5(SCN5A):c.-53+8001C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Heart Enhancers: Development and Disease Control at a Distance.

Frontiers In Genetics
Yuan, Xuefei X; Scott, Ian C IC; Wilson, Michael D MD
Publication Date: 2021

Variant appearance in text: rs13097780
PubMed Link: 33777110
Variant Present in the following documents:
  • Main text
  • fgene-12-642975.pdf
View BVdb publication page



Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kapoor, Ashish A; Lee, Dongwon D; Zhu, Luke L; Soliman, Elsayed Z EZ; Grove, Megan L ML; Boerwinkle, Eric E; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2019-05-28

Variant appearance in text: rs13097780
PubMed Link: 31068470
Variant Present in the following documents:
  • Main text
View BVdb publication page